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FLASH GENE
Symbol NUP214 contributors: mct/npt - updated : 03-06-2015
HGNC name nucleoporin 214kDa
HGNC id 8064
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
36 - 7608 214 2090 - 1994 8108440
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunelymph node   highly
Nervousnerve   highly
Reproductivemale systemtestis  highly
 male systemprostate  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 450-AA N-terminal domain (NTD), which was shown to form a seven-bladed beta-propeller that interacts with the RNA-helicase Dbp5/DDX19, suggesting a role in mRNA export
  • a long, flexible linker that connects the NTD to a centrally located coiled-coil domain
  • containing the FXFG repeat
  • a C-terminal region, which contains numerous FG-repeats, C-terminal part interacting with the most prominent nuclear export receptor, the importin beta-family member CRM1
  • HOMOLOGY
    Homologene
    FAMILY
  • FG-repeat-containing nucleoporins family
  • CATEGORY structural protein , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus
    intracellular,nuclear envelope,pore
    text
  • cytoplasmic face of nucleopore
  • localizes to the cytoplasmic side of the nuclear pore complex as part of the cytoplasmic filaments (Napetschnig 2009)
  • exogenously expressed full-length NUP214 was localized predominantly at the nuclear envelope, suggesting its integration in the nuclear pore complex (NPC)
  • localized on the spindles together with NUP214 during mitosis (Hashizume 2010)
  • found at the cytoplasmic side of the nuclear pore complex (NPC)
  • basic FUNCTION
  • may serve as a docking site in the receptor mediated import of substrates across the nuclear pore complex (NPC)
  • specific role of NUP214 in protein export is furthered by the biochemical properties of a high-affinity complex containing NUP214, CRM1, RanGTP, and an export cargo
  • NUP214 interacts with VDR and modulates its function as a transcription factor
  • DEK-NUP214 fusion protein appears defective, at least in part, in assisting transcriptional regulation of certain genes that might be essential for normal differentiation of hematopoietic cells (Sawatsubashi 2010)
  • implicated in nuclear protein export rather than import
  • NUP62 and nucleoporin 214 (NUP214) are differentially distributed between nuclear pore complexes on the flattened surfaces and peripheral rim of the nucleus
  • CELLULAR PROCESS cell cycle
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text nucleocytoplasmic
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of nuclear pore complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • XPO1
  • NUP88
  • interacting with DDX19B (binding of NUP214 is compatible with only the RNA-free form of DDX19B) (von Moeller 2009)
  • interaction between VDR and the C-terminus of NUP214 containing a cluster of the phenylalanine-glycine (FG) repeat
  • nucleoporin that is found at the cytoplasmic side of the nuclear pore complex (NPC), interacting with both import and export receptors
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CAN , IIAE9
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    with DEK in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome
    tumoral fusion      
    with ABL1 in T-cell acute lymphoblastic leukemia
    tumoral fusion      
    SET is fused to the C terminus of NUP214, occuring in certain forms of acute myeloid leukemia and inhibiting CRM1-dependent nuclear export
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS